Biomaterial Database

Skin changes in Ullrich congenital muscular dystrophy. 2008

Amelie Nadeau, and Francesco Muntoni

Dubowitz Neuromuscular Centre, UCL Institute of Child Health, 30 Guilford Street, 1st Floor, London WC1N 1EH, UK.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009136	Muscular Dystrophies	A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.	Muscular Dystrophy,Myodystrophica,Myodystrophy,Dystrophies, Muscular,Dystrophy, Muscular,Myodystrophicas,Myodystrophies
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D012867	Skin	The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
D018908	Muscle Weakness	A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)	Muscular Weakness,Muscle Weaknesses,Muscular Weaknesses,Weakness, Muscle,Weakness, Muscular,Weaknesses, Muscle,Weaknesses, Muscular
D020125	Mutation, Missense	A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)	Missense Mutation,Missense Mutations,Mutations, Missense
D024142	Collagen Type VI	A non-fibrillar collagen that forms a network of MICROFIBRILS within the EXTRACELLULAR MATRIX of CONNECTIVE TISSUE. The alpha subunits of collagen type VI assemble into antiparallel, overlapping dimers which then align to form tetramers.	Collagen Type VI, alpha1 Chain,Collagen Type VI, alpha1 Subunit,Collagen Type VI, alpha2 Subunit,Collagen Type VI, alpha3 Chain,Collagen Type VI, alpha3 Subunit,Collagen Type-VI, alpha2 Chain,Collagen alpha1(VI),Collagen alpha2(VI),Collagen alpha3(VI),Intima Collagen,Procollagen Type VI,Type VI (Intima) Collagen,Type VI Collagen,Type VI Procollagen,Collagen Type VI, alpha2 Chain,Collagen, Intima,Collagen, Type VI,Procollagen, Type VI